Lista de obras -

A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

artículo científico publicado en 2011

Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease

artículo científico publicado en 2019

CHARACTERIZATION OF A LARGE COHORT OF EGYPTIAN CHILDREN WITH GAUCHER DISEASE

artículo científico publicado en 2006

Calcium Ameliorates Diarrhea in Immunocompromised Children ⬇️

artículo científico publicado el 1 de junio de 2013

Clinical course and prognosis in patients with Gaucher disease and parkinsonism

artículo científico publicado en 2016

Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma

artículo científico publicado en 2016

Consequences of Diagnostic Delays in Type 1 Gaucher Disease: A Unique Opportunity among Hematologists/Oncologists for Early Diagnosis and Intervention. ⬇️

artículo científico publicado en 2006

Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention

artículo científico publicado en 2007

Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher's disease

artículo científico publicado en 2008

Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice ⬇️

artículo científico publicado el 12 de mayo de 2012

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1.

artículo científico publicado en 2009

Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial

artículo científico publicado en 2015

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

artículo científico publicado en 2002

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

artículo científico publicado en 2011

Eliglustat substrate reduction therapy in Gaucher disease patients with cardiac comorbidities

artículo científico publicado en 2024

Eliglustat substrate reduction therapy in pediatric patients with Gaucher disease

artículo científico publicado en 2024

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

artículo científico publicado en 2004

Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity ⬇️

artículo científico publicado el 3 de febrero de 2011

Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype

artículo científico publicado en 2010

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy ⬇️

artículo científico publicado el 4 de agosto de 2010

Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism

artículo científico publicado en 2013

Gaucher disease geneGBAfunctions in immune regulation ⬇️

artículo científico publicado el 4 de junio de 2012

Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report

scientific article published on 01 June 2019

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

artículo científico publicado en 2004

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

scientific journal article

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease

scientific article published on 17 March 2014

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

artículo científico publicado en 2010

Glucosylsphingosine is a key biomarker of Gaucher disease

artículo científico publicado en 2016

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease

artículo científico publicado en 2005

Hepatocellular carcinoma in Gaucher disease: an international case series.

artículo científico publicado en 2018

Hepatocellular carcinoma in type 1 Gaucher disease: a case report with review of the literature.

artículo científico publicado en 2005

High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.

artículo científico publicado en 2010

Hyperferritinemia and iron overload in type 1 Gaucher disease

artículo científico publicado en 2010

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology

artículo científico publicado en 2014

Individualization of long-term enzyme replacement therapy for Gaucher disease

artículo científico publicado en 2005

Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders

artículo científico publicado en 2016

Life expectancy in Gaucher disease type 1

artículo científico publicado en 2008

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

artículo científico publicado en 2016

MGUS, lymphoplasmacytic malignancies and Gaucher disease: the significance of the clinical association.

artículo científico publicado en 2018

Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease ⬇️

artículo científico publicado el 30 de septiembre de 2010

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

artículo científico publicado en 2013

Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults ⬇️

artículo científico publicado el 26 de noviembre de 2010

Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial

artículo científico publicado en 2017

Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis

artículo científico publicado en 2012

Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data.

artículo científico publicado en 2017

Prevalence of type 1 Gaucher disease in the United States

scientific article published on 01 February 2008

Protease activation during in vivo pancreatitis is dependent on calcineurin activation

artículo científico publicado en 2009

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long‐term outcomes of therapy ⬇️

artículo científico publicado el 29 de marzo de 2011

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

artículo científico publicado en 2016

Reducing selection bias in case-control studies from rare disease registries ⬇️

artículo científico publicado el 12 de septiembre de 2011

Risk factors associated with biliary pancreatitis in children

artículo científico publicado en 2012

The Role of ARF6 in Biliary Atresia.

artículo científico publicado en 2015

The risk of Parkinson's disease in type 1 Gaucher disease

artículo científico publicado en 2010

The road to biosimilars in rare diseases - ongoing lessons from Gaucher disease

scientific article published on 23 December 2019

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

artículo científico publicado en 2009

Therapeutic goals in the treatment of Gaucher disease.

artículo científico publicado en 2004

Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis

artículo científico publicado en 2009

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

artículo científico publicado en 2017

Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation

artículo científico publicado en 2014

Understanding the natural history of Gaucher disease

artículo científico publicado en 2015

Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease

artículo científico publicado en 2016

Lista de obras de

A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease

CHARACTERIZATION OF A LARGE COHORT OF EGYPTIAN CHILDREN WITH GAUCHER DISEASE

Calcium Ameliorates Diarrhea in Immunocompromised Children ⬇️

Clinical course and prognosis in patients with Gaucher disease and parkinsonism

Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma

Consequences of Diagnostic Delays in Type 1 Gaucher Disease: A Unique Opportunity among Hematologists/Oncologists for Early Diagnosis and Intervention. ⬇️

Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention

Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher's disease

Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice ⬇️

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1.

Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

Eliglustat substrate reduction therapy in Gaucher disease patients with cardiac comorbidities

Eliglustat substrate reduction therapy in pediatric patients with Gaucher disease

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity ⬇️

Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy ⬇️

Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism

Gaucher disease geneGBAfunctions in immune regulation ⬇️

Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

Glucosylsphingosine is a key biomarker of Gaucher disease

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease

Hepatocellular carcinoma in Gaucher disease: an international case series.

Hepatocellular carcinoma in type 1 Gaucher disease: a case report with review of the literature.

High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.

Hyperferritinemia and iron overload in type 1 Gaucher disease

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology

Individualization of long-term enzyme replacement therapy for Gaucher disease

Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders

Life expectancy in Gaucher disease type 1

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

MGUS, lymphoplasmacytic malignancies and Gaucher disease: the significance of the clinical association.

Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease ⬇️

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults ⬇️

Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial

Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis

Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data.

Prevalence of type 1 Gaucher disease in the United States

Protease activation during in vivo pancreatitis is dependent on calcineurin activation

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long‐term outcomes of therapy ⬇️

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

Reducing selection bias in case-control studies from rare disease registries ⬇️

Risk factors associated with biliary pancreatitis in children

The Role of ARF6 in Biliary Atresia.

The risk of Parkinson's disease in type 1 Gaucher disease

The road to biosimilars in rare diseases - ongoing lessons from Gaucher disease

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

Therapeutic goals in the treatment of Gaucher disease.

Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation

Understanding the natural history of Gaucher disease

Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease